AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

European Journal of Human Genetics

Volumn 22, Issue 3, 2014, Pages 363-368

  Cacciagli, Pierre ^a,b,c   Desvignes, Jean Pierre ^a,b   Girard, Nadine ^d   Delepine, Marc ^e   Zelenika, Diana ^e   Lathrop, Mark ^e,f   Lévy, Nicolas ^a,b,c   Ledbetter, David H ^g   Dobyns, William B ^h   Villard, Laurent ^a,b  

^a INSERM   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c Assistance Publique Hô Pitaux de Marseille   (France)

^d Service de Neuroradiologie   (France)

^e CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^f FONDATION JEAN DAUSSET CEPH   (France)

^g GEISINGER HEALTH SYSTEM   (United States)

^h SEATTLE CHILDREN S HOSPITAL   (United States)

Author keywords

AP1S2; brain pathology; cerebral calcifications; Dandy Walker malformation; intellectual disability; X linked

Indexed keywords

ADAPTOR PROTEIN COMPLEX SIGMA SUBUNITS; ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASAL GANGLIA DISEASES; CHILD; CHROMOSOMES, HUMAN, X; DANDY-WALKER SYNDROME; EXOME; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEIZURES;

EID: 84894331207     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.135     Document Type: Article

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